Ayako Matsunaga

Kawasaki, Japan

Last Updated: 09/26/2026

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Found 21 publications

Acute hematogenous osteomyelitis of the talus in a toddler presenting with a limp.

Acute hematogenous osteomyelitis of the talus in a toddler presenting with a limp.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: October 24, 2025

A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome.

A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome.

Journal: PloS one

Published: August 28, 2025

An Adolescent Case of Ulcerative Colitis Complicated by Toxic Megacolon.

An Adolescent Case of Ulcerative Colitis Complicated by Toxic Megacolon.

Journal: Case reports in gastroenterology

Published: May 20, 2025

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 10, 2023

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Journal: Scientific reports

Published: November 17, 2021

A Japanese patient with neonatal biotin-responsive basal ganglia disease.

A Japanese patient with neonatal biotin-responsive basal ganglia disease.

Journal: Human genome variation

Published: October 12, 2021

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.

Journal: Mitochondrion

Published: August 17, 2021

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.

Journal: Orphanet journal of rare diseases

Published: July 14, 2021

Macroscopic Characteristics of the Native Liver in Children With MPV17-Related Mitochondrial DNA Depletion Syndrome: An Indication for Performing Liver Transplantation?

Macroscopic Characteristics of the Native Liver in Children With MPV17-Related Mitochondrial DNA Depletion Syndrome: An Indication for Performing Liver Transplantation?

Journal: Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society

Published: July 08, 2021

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

Journal: International journal of cardiology

Published: February 03, 2021

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.

Journal: Archives of disease in childhood. Fetal and neonatal edition

Published: January 14, 2021

Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children.

Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children.

Journal: Pediatric transplantation

Published: December 11, 2020

Showing 1-12 of 21

Last Updated: 09/26/2026